PIWIL2 piwi like RNA-mediated gene silencing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIWIL2provided by HGNC
Official Full Name: piwi like RNA-mediated gene silencing 2provided by HGNC
Primary source: HGNC:HGNC:17644
See related: Ensembl:ENSG00000197181 MIM:610312; AllianceGenome:HGNC:17644
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CT80; HILI; mili; PIWIL1L
Summary: PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]
Expression: Biased expression in testis (RPKM 18.7), duodenum (RPKM 3.2) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p21.3

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (22275316..22357568)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (22549271..22631533)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (22132829..22215081)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PIWIL2 restrains the progression of thyroid cancer via interaction with miR-146a-3p.
Title: PIWIL2 restrains the progression of thyroid cancer via interaction with miR-146a-3p.
A homozygous PIWIL2 frameshift variant affects the formation and maintenance of human-induced pluripotent stem cell-derived spermatogonial stem cells and causes Sertoli cell-only syndrome.
Title: A homozygous PIWIL2 frameshift variant affects the formation and maintenance of human-induced pluripotent stem cell-derived spermatogonial stem cells and causes Sertoli cell-only syndrome.
Multiple transcriptome analysis of Piwil2-induced cancer stem cells, including piRNAs, mRNAs and miRNAs reveals the mechanism of tumorigenesis and development.
Title: Multiple transcriptome analysis of Piwil2-induced cancer stem cells, including piRNAs, mRNAs and miRNAs reveals the mechanism of tumorigenesis and development.
Lower Spermatozoal PIWI-LIKE 1 and 2 Transcript Levels Are Significantly Associated with Higher Fertilization Rates in IVF.
Title: Lower Spermatozoal PIWI-LIKE 1 and 2 Transcript Levels Are Significantly Associated with Higher Fertilization Rates in IVF.
P-element Induced WImpy protein-like RNA-mediated gene silencing 2 regulates tumor cell progression, apoptosis, and metastasis in oral squamous cell carcinoma.
Title: P-element Induced WImpy protein-like RNA-mediated gene silencing 2 regulates tumor cell progression, apoptosis, and metastasis in oral squamous cell carcinoma.
CBP-mediated Wnt3a/beta-catenin signaling promotes cervical oncogenesis initiated by Piwil2.
Title: CBP-mediated Wnt3a/β-catenin signaling promotes cervical oncogenesis initiated by Piwil2.
PIWIL2 may serve as a prognostic predictor in cancers: A systematic review and meta-analysis.
Title: PIWIL2 may serve as a prognostic predictor in cancers: A systematic review and meta-analysis.
Structural basis for RNA 3'-end recognition by the PIWIL2 PAZ domain.
Title: Structural basis for RNA 3'-end recognition by the PIWIL2 PAZ domain.
PIWIL-2 and piRNAs are regularly expressed in epithelia of the skin and their expression is related to differentiation.
Title: PIWIL-2 and piRNAs are regularly expressed in epithelia of the skin and their expression is related to differentiation.
Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene.
Title: Generation of an iPSC line (HUSTi002-A) from fibroblasts of a patient with Sertoli cell-only syndrome carrying c.731_732delAT in PIWIL2 gene.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

D8S2279 (e-PCR)
- UniSTS:473907

G65205 (e-PCR)
- UniSTS:225871

SHGC-110848 (e-PCR)
- UniSTS:168044

D1S1425 (e-PCR)
- UniSTS:149621

SHGC-155028 (e-PCR)
- UniSTS:184778

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA endonuclease activity	ISS Inferred from Sequence or Structural Similarity more info
enables mRNA binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables piRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables piRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables piRNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in germ-line stem cell population maintenance	ISS Inferred from Sequence or Structural Similarity more info
involved_in meiotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of circadian rhythm	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in piRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in piRNA-mediated gene silencing by mRNA destabilization	IEA Inferred from Electronic Annotation more info
involved_in piRNA-mediated retrotransposon silencing by heterochromatin formation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytoplasmic translation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of meiosis I	IEA Inferred from Electronic Annotation more info
involved_in regulatory ncRNA-mediated gene silencing	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulatory ncRNA-mediated gene silencing	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_positive_effect retrotransposon silencing by heterochromatin formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in retrotransposon silencing by mRNA destabilization	IEA Inferred from Electronic Annotation more info
involved_in retrotransposon silencing by piRNA-directed DNA methylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in rhythmic process	IEA Inferred from Electronic Annotation more info
involved_in secondary piRNA processing	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in P granule	IBA Inferred from Biological aspect of Ancestor more info
located_in P granule	ISS Inferred from Sequence or Structural Similarity more info
part_of PET complex	ISS Inferred from Sequence or Structural Similarity more info
located_in chromatoid body	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in dense body	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in perinucleolar chromocenter	IEA Inferred from Electronic Annotation more info
located_in pi-body	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: piwi-like protein 2

Names: cancer/testis antigen 80; piwi-like 2; piwil2-like protein; testicular tissue protein Li 141

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001135721.3 → NP_001129193.1 piwi-like protein 2 isoform 1

See identical proteins and their annotated locations for NP_001129193.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein.

Source sequence(s)

AC105206, AC105910

Consensus CDS

CCDS6029.1

UniProtKB/Swiss-Prot

A8K4S3, A8K8S5, B0AZN9, B0AZP2, B4DR22, E7ECA4, Q8TC59, Q96SW6, Q9NW28

UniProtKB/TrEMBL

W0HK13

Related

ENSP00000406956.2, ENST00000454009.6

Conserved Domains (3) summary

cd02845
Location:387 → 504

PAZ_piwi_like; PAZ domain, Piwi_like subfamily. In multi-cellular organisms, the Piwi protein appears to be essential for the maintenance of germline stem cells. In the Drosophila male germline, Piwi was shown to be involved in the silencing of retrotransposons in the ...

cd04658
Location:512 → 956

Piwi_piwi-like_Euk; Piwi_piwi-like_Euk: PIWI domain, Piwi-like subfamily found in eukaryotes. This domain is found in Piwi and closely related proteins, where it is believed to perform a crucial role in germline cells, via RNA silencing. RNA silencing refers to a group of ...

pfam08699
Location:339 → 386

ArgoL1; Argonaute linker 1 domain
NM_001330480.2 → NP_001317409.1 piwi-like protein 2 isoform 2

Status: VALIDATED

Source sequence(s)

AC105910, AK299068, AK315830, HQ651229, HY030065

Consensus CDS

CCDS83261.1

UniProtKB/Swiss-Prot

Q8TC59

Related

ENSP00000428267.1, ENST00000521356.5
NM_018068.5 → NP_060538.2 piwi-like protein 2 isoform 1

See identical proteins and their annotated locations for NP_060538.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants encode the same protein.

Source sequence(s)

AC105206, AC105910

Consensus CDS

CCDS6029.1

UniProtKB/Swiss-Prot

A8K4S3, A8K8S5, B0AZN9, B0AZP2, B4DR22, E7ECA4, Q8TC59, Q96SW6, Q9NW28

UniProtKB/TrEMBL

W0HK13

Related

ENSP00000349208.6, ENST00000356766.11

Conserved Domains (3) summary

cd02845
Location:387 → 504

PAZ_piwi_like; PAZ domain, Piwi_like subfamily. In multi-cellular organisms, the Piwi protein appears to be essential for the maintenance of germline stem cells. In the Drosophila male germline, Piwi was shown to be involved in the silencing of retrotransposons in the ...

cd04658
Location:512 → 956

Piwi_piwi-like_Euk; Piwi_piwi-like_Euk: PIWI domain, Piwi-like subfamily found in eukaryotes. This domain is found in Piwi and closely related proteins, where it is believed to perform a crucial role in germline cells, via RNA silencing. RNA silencing refers to a group of ...

pfam08699
Location:339 → 386

ArgoL1; Argonaute linker 1 domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

22275316..22357568

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005273551.5 → XP_005273608.1 piwi-like protein 2 isoform X2

Conserved Domains (4) summary

cd02845
Location:387 → 504

PAZ_piwi_like; PAZ domain, Piwi_like subfamily. In multi-cellular organisms, the Piwi protein appears to be essential for the maintenance of germline stem cells. In the Drosophila male germline, Piwi was shown to be involved in the silencing of retrotransposons in the ...

cd04658
Location:512 → 802

Piwi_piwi-like_Euk; Piwi_piwi-like_Euk: PIWI domain, Piwi-like subfamily found in eukaryotes. This domain is found in Piwi and closely related proteins, where it is believed to perform a crucial role in germline cells, via RNA silencing. RNA silencing refers to a group of ...

pfam08699
Location:339 → 386

ArgoL1; Argonaute linker 1 domain

pfam16486
Location:218 → 287

ArgoN; N-terminal domain of argonaute
XM_047421924.1 → XP_047277880.1 piwi-like protein 2 isoform X1
XM_047421925.1 → XP_047277881.1 piwi-like protein 2 isoform X2